TY - JOUR
T1 - Precision treatment of beta-cell monogenic diabetes
T2 - a systematic review
AU - Naylor, Rochelle N.
AU - Patel, Kashyap A.
AU - Kettunen, Jarno L.T.
AU - Männistö, Jonna M.E.
AU - Støy, Julie
AU - Beltrand, Jacques
AU - Polak, Michel
AU - ADA/EASD PMDI
AU - Franks, Paul W.
AU - Rich, Stephen S.
AU - Wagner, Robert
AU - Vilsbøll, Tina
AU - Vesco, Kimberly K.
AU - Udler, Miriam S.
AU - Tuomi, Tiinamaija
AU - Sweeting, Arianne
AU - Sims, Emily K.
AU - Sherr, Jennifer L.
AU - Semple, Robert K.
AU - Reynolds, Rebecca M.
AU - Redondo, Maria J.
AU - Redman, Leanne M.
AU - Pratley, Richard E.
AU - Pop-Busui, Rodica
AU - Pollin, Toni I.
AU - Perng, Wei
AU - Pearson, Ewan R.
AU - Ozanne, Susan E.
AU - Owen, Katharine R.
AU - Oram, Richard
AU - Murphy, Rinki
AU - Mohan, Viswanathan
AU - Misra, Shivani
AU - Meigs, James B.
AU - Mathioudakis, Nestoras
AU - Mathieu, Chantal
AU - Ma, Ronald C.W.
AU - Loos, Ruth J.F.
AU - Lim, Siew S.
AU - Laffel, Lori M.
AU - Kwak, Soo Heon
AU - Josefson, Jami L.
AU - Hood, Korey K.
AU - Hivert, Marie France
AU - Hirsch, Irl B.
AU - Hattersley, Andrew T.
AU - Griffin, Kurt
AU - Florez, Jose C.
AU - Liu, Kai
AU - Hansen, Torben
AU - Gaillard, Romy
N1 - Publisher Copyright: © The Author(s) 2024.
PY - 2024/7/18
Y1 - 2024/7/18
N2 - Background: Beta-cell monogenic forms of diabetes have strong support for precision medicine. We systematically analyzed evidence for precision treatments for GCK-related hyperglycemia, HNF1A-, HNF4A- and HNF1B-diabetes, and mitochondrial diabetes (MD) due to m.3243 A > G variant, 6q24-transient neonatal diabetes mellitus (TND) and SLC19A2-diabetes. Methods: The search of PubMed, MEDLINE, and Embase for individual and group level data for glycemic outcomes using inclusion (English, original articles written after 1992) and exclusion (VUS, multiple diabetes types, absent/aggregated treatment effect measures) criteria. The risk of bias was assessed using NHLBI study-quality assessment tools. Data extracted from Covidence were summarized and presented as descriptive statistics in tables and text. Results: There are 146 studies included, with only six being experimental studies. For GCK-related hyperglycemia, the six studies (35 individuals) assessing therapy discontinuation show no HbA1c deterioration. A randomized trial (18 individuals per group) shows that sulfonylureas (SU) were more effective in HNF1A-diabetes than in type 2 diabetes. Cohort and case studies support SU’s effectiveness in lowering HbA1c. Two cross-over trials (each with 15–16 individuals) suggest glinides and GLP-1 receptor agonists might be used in place of SU. Evidence for HNF4A-diabetes is limited. Most reported patients with HNF1B-diabetes (N = 293) and MD (N = 233) are on insulin without treatment studies. Limited data support oral agents after relapse in 6q24-TND and for thiamine improving glycemic control and reducing/eliminating insulin requirement in SLC19A2-diabetes. Conclusion: There is limited evidence, and with moderate or serious risk of bias, to guide monogenic diabetes treatment. Further evidence is needed to examine the optimum treatment in monogenic subtypes.
AB - Background: Beta-cell monogenic forms of diabetes have strong support for precision medicine. We systematically analyzed evidence for precision treatments for GCK-related hyperglycemia, HNF1A-, HNF4A- and HNF1B-diabetes, and mitochondrial diabetes (MD) due to m.3243 A > G variant, 6q24-transient neonatal diabetes mellitus (TND) and SLC19A2-diabetes. Methods: The search of PubMed, MEDLINE, and Embase for individual and group level data for glycemic outcomes using inclusion (English, original articles written after 1992) and exclusion (VUS, multiple diabetes types, absent/aggregated treatment effect measures) criteria. The risk of bias was assessed using NHLBI study-quality assessment tools. Data extracted from Covidence were summarized and presented as descriptive statistics in tables and text. Results: There are 146 studies included, with only six being experimental studies. For GCK-related hyperglycemia, the six studies (35 individuals) assessing therapy discontinuation show no HbA1c deterioration. A randomized trial (18 individuals per group) shows that sulfonylureas (SU) were more effective in HNF1A-diabetes than in type 2 diabetes. Cohort and case studies support SU’s effectiveness in lowering HbA1c. Two cross-over trials (each with 15–16 individuals) suggest glinides and GLP-1 receptor agonists might be used in place of SU. Evidence for HNF4A-diabetes is limited. Most reported patients with HNF1B-diabetes (N = 293) and MD (N = 233) are on insulin without treatment studies. Limited data support oral agents after relapse in 6q24-TND and for thiamine improving glycemic control and reducing/eliminating insulin requirement in SLC19A2-diabetes. Conclusion: There is limited evidence, and with moderate or serious risk of bias, to guide monogenic diabetes treatment. Further evidence is needed to examine the optimum treatment in monogenic subtypes.
UR - http://www.scopus.com/inward/record.url?scp=85204481256&partnerID=8YFLogxK
U2 - 10.1038/s43856-024-00556-1
DO - 10.1038/s43856-024-00556-1
M3 - Article
C2 - 39025920
AN - SCOPUS:85204481256
SN - 2730-664X
VL - 4
JO - Communications Medicine
JF - Communications Medicine
IS - 1
M1 - 145
ER -